ClinVar Miner

Submissions for variant NM_017780.4(CHD7):c.5210+3A>G

dbSNP: rs1554602588
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Human Genetics, Inc, Center for Human Genetics, Inc RCV000659299 SCV000781107 pathogenic CHARGE association 2016-11-01 criteria provided, single submitter clinical testing
DASA RCV000659299 SCV002073787 likely pathogenic CHARGE association 2022-02-05 criteria provided, single submitter clinical testing This sequence change has been observed in affected individual(s) and ClinVar contains an entry for this variant (Clinvar ID: 547193; PMID: 29178447; 29300383) - PS4. This variant is not present in population databases (rs1554602588; gnomAD; ABraOM no frequency - http://abraom.ib.usp.br/) - PM2. In summary, the currently available evidence indicates that the variant is likely pathogenic.

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